ClinGen Allele Registry
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Canonical Allele Identifier:
CA2580597712
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.114806766T>G , CM000671.2:g.114806766T>G
GRCh38
NC_000009.11:g.117569046T>G , CM000671.1:g.117569046T>G
GRCh37
NC_000009.10:g.116608867T>G
NCBI36
NG_011488.2:g.4363A>C
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